Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

A Novel Genetic Syndrome Caused by Haploinsufficiency of CHD2, a Regulator of Chromatin Structure J Down Syndr Chr Abnorm 2016 Jan 7;2:104, doi:10.4172/2472-1115.1000104

Date

01/07/2016

Abstract

Dynamic regulation of gene transcription, achieved through epigenetic modification of DNA/histones and chromatin remodeling, is essential for cell differentiation and development. An emerging theme in the pathogenesis of genetic disease, including intellectual disability (ID), autism spectrum disorder (ASD) and congenital multisystem disorders, is the identification of mutations in genes involved in epigenetic modification or chromatin remodeling.

Author List

Bone, K., Argiropoulos, B.

Author

Kathleen M. Bone PhD Associate Professor in the Pathology department at Medical College of Wisconsin

View Online